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Aliases for ABHD6 Gene

Aliases for ABHD6 Gene

  • Abhydrolase Domain Containing 6 2 3 5
  • EC 3.1.1.23 4 61
  • Abhydrolase Domain-Containing Protein 6 4
  • 2-Arachidonoylglycerol Hydrolase 4

External Ids for ABHD6 Gene

Previous GeneCards Identifiers for ABHD6 Gene

  • GC03P058078
  • GC03P058180

Summaries for ABHD6 Gene

GeneCards Summary for ABHD6 Gene

ABHD6 (Abhydrolase Domain Containing 6) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include acylglycerol lipase activity.

UniProtKB/Swiss-Prot for ABHD6 Gene

  • Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).

Tocris Summary for ABHD6 Gene

No data available for Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD6 Gene

Genomics for ABHD6 Gene

Regulatory Elements for ABHD6 Gene

Enhancers for ABHD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ABHD6 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ABHD6 Gene

Chromosome:
3
Start:
58,237,506 bp from pter
End:
58,295,693 bp from pter
Size:
58,188 bases
Orientation:
Plus strand

Genomic View for ABHD6 Gene

Genes around ABHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD6 Gene

Proteins for ABHD6 Gene

  • Protein details for ABHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV23-ABHD6_HUMAN
    Recommended name:
    Monoacylglycerol lipase ABHD6
    Protein Accession:
    Q9BV23
    Secondary Accessions:
    • B2R7Y9
    • Q6ZMF7

    Protein attributes for ABHD6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD6 Gene

Post-translational modifications for ABHD6 Gene

  • Ubiquitination at Lys 223
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD6 Gene

Domains & Families for ABHD6 Gene

Gene Families for ABHD6 Gene

Suggested Antigen Peptide Sequences for ABHD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV23

UniProtKB/Swiss-Prot:

ABHD6_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with ABHD6: view

Function for ABHD6 Gene

Molecular function for ABHD6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=159 uM for 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; Vmax=45 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269 PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269 PubMed:22969151};
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolyzes glycerol monoesters of long-chain fatty acids.
UniProtKB/Swiss-Prot Function:
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity).

Enzyme Numbers (IUBMB) for ABHD6 Gene

Gene Ontology (GO) - Molecular Function for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA --
GO:0047372 acylglycerol lipase activity TAS --
genes like me logo Genes that share ontologies with ABHD6: view

Phenotypes for ABHD6 Gene

genes like me logo Genes that share phenotypes with ABHD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD6 Gene

Localization for ABHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD6 Gene

Membrane; Single-pass type II membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABHD6 Gene COMPARTMENTS Subcellular localization image for ABHD6 gene
Compartment Confidence
extracellular 5
plasma membrane 5
mitochondrion 4
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane ISS --
GO:0032281 AMPA glutamate receptor complex IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ABHD6: view

Pathways & Interactions for ABHD6 Gene

genes like me logo Genes that share pathways with ABHD6: view

Interacting Proteins for ABHD6 Gene

Gene Ontology (GO) - Biological Process for ABHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009395 phospholipid catabolic process IEA --
GO:0030336 negative regulation of cell migration IEA --
GO:0046464 acylglycerol catabolic process IDA 22969151
GO:0046889 positive regulation of lipid biosynthetic process IEA --
GO:0060292 long term synaptic depression IEA --
genes like me logo Genes that share ontologies with ABHD6: view

No data available for SIGNOR curated interactions for ABHD6 Gene

Drugs & Compounds for ABHD6 Gene

(6) Drugs for ABHD6 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Experimental Pharma 210
Water Approved Pharma 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0
(Z)-Pugnac Pharma Inhibitor of O-GlcNAcase and β-hexosaminidase, O-GlcNAcase and beta-hexosaminidase inhibitor 0
Flurofamide Pharma Urease inhibitor 0

(1) Additional Compounds for ABHD6 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
JZP 430
1672691-74-5

(5) Tocris Compounds for ABHD6 Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor 132489-69-1
Flurofamide Urease inhibitor 70788-28-2
JZP 430 Potent and irreversible alpha/beta-hydrolase domain 6 (ABHD6) inhibitor 1672691-74-5
Thiamet G Potent O-GlcNAcase inhibitor 1009816-48-1
WWL 70 Potent ABHD6 inhibitor 947669-91-2

(1) ApexBio Compounds for ABHD6 Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with ABHD6: view

Transcripts for ABHD6 Gene

Unigene Clusters for ABHD6 Gene

Abhydrolase domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for ABHD6 Gene

GeneLoc Exon Structure for
ABHD6
ECgene alternative splicing isoforms for
ABHD6

Expression for ABHD6 Gene

mRNA expression in normal human tissues for ABHD6 Gene

Protein differential expression in normal tissues from HIPED for ABHD6 Gene

This gene is overexpressed in Nasal epithelium (44.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABHD6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABHD6 Gene:

ABHD6

SOURCE GeneReport for Unigene cluster for ABHD6 Gene:

Hs.476454
genes like me logo Genes that share expression patterns with ABHD6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ABHD6 Gene

Orthologs for ABHD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABHD6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABHD6 34
  • 90.7 (n)
  • 94.96 (a)
ABHD6 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD6 34
  • 91.3 (n)
  • 96.44 (a)
ABHD6 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd6 34
  • 90.12 (n)
  • 94.01 (a)
Abhd6 16
Abhd6 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABHD6 34
  • 99.7 (n)
  • 99.7 (a)
ABHD6 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd6 34
  • 88.33 (n)
  • 93.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ABHD6 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD6 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD6 34
  • 74.93 (n)
  • 80.3 (a)
ABHD6 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD6 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd6 34
  • 71.12 (n)
  • 75.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia abhd6-prov 34
zebrafish
(Danio rerio)
Actinopterygii abhd6a 34
  • 67.16 (n)
  • 69.64 (a)
Dr.13980 34
abhd6a 35
  • 69 (a)
OneToMany
abhd6b 35
  • 64 (a)
OneToMany
Species where no ortholog for ABHD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABHD6 Gene

ENSEMBL:
Gene Tree for ABHD6 (if available)
TreeFam:
Gene Tree for ABHD6 (if available)

Paralogs for ABHD6 Gene

No data available for Paralogs for ABHD6 Gene

Variants for ABHD6 Gene

Sequence variations from dbSNP and Humsavar for ABHD6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs954205 -- 58,236,705(-) GGGCT(C/T)CTTTC upstream-variant-2KB
rs954279 -- 58,237,077(-) CCCCC(A/C)AATCC upstream-variant-2KB
rs6924 -- 58,294,334(-) GGGCT(A/G)GAGCA utr-variant-3-prime
rs6925 -- 58,294,362(+) GCAGG(A/G)TACAT utr-variant-3-prime
rs8723 -- 58,294,584(+) TTTCA(A/G)TGTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABHD6 Gene

Variant ID Type Subtype PubMed ID
esv2660248 CNV deletion 23128226
esv3561931 CNV deletion 23714750
esv3596242 CNV loss 21293372
esv3596243 CNV loss 21293372
nsv1001814 CNV gain 25217958
nsv528147 CNV gain 19592680
nsv590369 CNV loss 21841781
nsv834703 CNV gain 17160897

Variation tolerance for ABHD6 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD6 Gene

Disorders for ABHD6 Gene

Relevant External Links for ABHD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD6

No disorders were found for ABHD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD6 Gene

Publications for ABHD6 Gene

  1. Biochemical and pharmacological characterization of human I+/I^-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D. … Laitinen J.T. (J. Lipid Res. 2012) 2 3 4 65
  2. An unannotated alpha/beta hydrolase superfamily member, ABHD6 differentially expressed among cancer cell lines. (PMID: 18360779) Li F. … Ji C. (Mol. Biol. Rep. 2009) 3 22 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. (PMID: 24534757) Oparina N.Y. … Kozyrev S.V. (Ann. Rheum. Dis. 2015) 3 65

Products for ABHD6 Gene

Sources for ABHD6 Gene

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